{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828420769",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1457,
          "referenceAllele": "V",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001357334.1:p.Val1457Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020558",
          "hgvs": "NM_001370405.1:c.4369G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706301"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76161[alleleid]",
        "alleleId": 76161,
        "preferredName": "NM_000548.5(TSC2):c.4498G>A (p.Val1500Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65229",
        "RCV": [
          "RCV000055449",
          "RCV000166370",
          "RCV000813618",
          "RCV000518605",
          "RCV003996481"
        ],
        "variationId": 65229
      }
    ]
  },
  "type": "amino-acid"
}